Abstract
Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed. However, chorein expression was absent or noticeably reduced in ChAc patient cells, but not McLeod syndrome and Huntington's disease cells. This suggests that loss of chorein expression is a diagnostic feature of ChAc.
| Original language | English |
|---|---|
| Pages (from-to) | 299-302 |
| Number of pages | 4 |
| Journal | Annals of Neurology |
| Volume | 56 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Aug 2004 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- Acanthocytes
- Adrenoleukodystrophy
- Blotting, Western
- Cell Line
- Chorea
- DNA Mutational Analysis
- Erythrocyte Membrane
- Female
- Gene Expression Regulation
- Humans
- Male
- Mutation
- Proteins
- Vesicular Transport Proteins
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